STRUCTURAL CHROMOSOMAL

ABNORMALITIES
INVERSION
One or two breaks along the length of chromosome
Rearrangement of the broken piece
Loss of function +/-
ISOCHROMOSOME

Mitotic
Divides transversely and replicates
Two new types formed
Genetic material – excess/deficient
Turners syndrome
NONDYSJUNCTION
First meiosis
Pair of chromosome move jointly during anaphase
One gamete deficient by 2 chromosomes
Aneuploidies
Downs syndrome (21)
edwards (18)
patau (13)
MOSAICISM
First mitosis
One cell with 47and other with 45
2 cell lines
TRANSLOCATION
Segment of chromosome breaks from parent
chromosome
Joins another
Appears shorter
Genetic material +/-
Balanced -> normal phenotype
DELETION
Part of chromosome is deleted and is lost
Larger the segment more lethal is the effect
Sub microscopic -> FISH
Loss of cluster of genes
William syndrome (7q11.23)
Retinoblastoma (13q14.1)
Prader willi (15q11)
GENOMIC IMPRINTING
Maternal and paternal sets functinally unequal
Preferential expression
Angelman syndrome